First Report of ARID1A Somatic Mutation in a Female Patient With Renal Cell Carcinoma

Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney. Renal cell carcinoma occurs in 2%–4% of patients with tuberous sclerosis complex, often developing multiply and bilaterally. Renal cell carcinoma associated with this genetic disorder may include complex tumor heterogeneity caused by the spatially different mutational landscape. Herein, we report the case of a female patient with tuberous sclerosis complex who developed multiple renal tumors. A 44-year-old female patient with tuberous sclerosis complex developed three different histological types of tumor—angiomyolipoma, clear cell renal cell carcinoma, and papillary renal cell carcinoma—in the left kidney at first renal cell carcinoma recurrence. The papillary renal cell carcinoma was morphologically atypical, indicating that its occurrence was associated with the genetic disorder. Furthermore, whole-exome sequencing revealed distinct patterns of somatic mutation in the three tumor types, and the atypical papillary renal cell carcinoma possessed a different mutational landscape than that of typical papillary renal cell carcinomas. Our findings indicate that tumors associated with tuberous sclerosis complex may be diagnosed with careful pathological examination. Furthermore, somatic mutation profiles of these tumors revealed their unique features, providing important information for further understanding the mechanism of multiple tumor development in patients with tuberous sclerosis complex.

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Pathological Features and Mutational Landscapes of Multiple Renal Cell Carcinoma Regions in Patient with Tuberous Sclerosis Complex: A Case Report

10.21203/rs.3.rs-112926/v1 ◽

2020 ◽

Author(s):

Tetsuya Yamamoto ◽

Taigo Kato ◽

Koji Hatano ◽

Atsunari Kawashima ◽

Takeshi Ujike ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Tuberous Sclerosis ◽

Female Patient ◽

Somatic Mutation ◽

Tuberous Sclerosis Complex ◽

Renal Cell ◽

Genetic Disorder ◽

Papillary Renal Cell Carcinoma ◽

Mutational Landscape

Abstract Background: Tuberous sclerosis complex is a genetic disorder characterized by facial angiofibromas, intellectual disability, epilepsy, and tumor formation in multiple organs, including the kidney. Renal cell carcinoma occurs in 2%–4% of patients with tuberous sclerosis complex, often developing multiply and bilaterally. Renal cell carcinoma associated with this genetic disorder may include complex tumor heterogeneity caused by the spatially different mutational landscape. Herein, we report the case of a female patient with tuberous sclerosis complex who developed multiple renal tumors.Case presentation: A 44-year-old female patient with tuberous sclerosis complex developed three different histological types of tumor—angiomyolipoma, clear cell renal cell carcinoma, and papillary renal cell carcinoma—in the left kidney at first renal cell carcinoma recurrence. The papillary renal cell carcinoma was morphologically atypical, indicating that its occurrence was associated with the genetic disorder. Furthermore, whole-exome sequencing revealed distinct patterns of somatic mutation in the three tumor types, and the atypical papillary renal cell carcinoma possessed a different mutational landscape than that of typical papillary renal cell carcinomas.Conclusion: Our findings indicate that tumors associated with tuberous sclerosis complex may be diagnosed with careful pathological examination. Furthermore, somatic mutation profiles of these tumors revealed their unique features, providing important information for further understanding the mechanism of multiple tumor development in patients with tuberous sclerosis complex.

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Clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma: two case reports and literature review

Aktuelle Urologie ◽

10.1055/a-1139-0697 ◽

2020 ◽

Author(s):

Dalin Feng ◽

Mingshuai Wang ◽

Xiaodong Zhang ◽

Jianwen Wang

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Female Patient ◽

Male Patient ◽

Renal Cell ◽

Clinical Characteristics ◽

Genetic Test ◽

Enhanced Ct ◽

The Right ◽

Hereditary Leiomyomatosis

Abstract Background The objective of this study is to discuss clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma on the basis of 2 cases and to review recent literature, in order to present medical advances. Methods A 29-year old male patient came to our hospital because of a huge tumour on the right kidney. Enhanced CT showed that the tumour was about 15.5*10.5 cm, and was considered to be malignant. Another case was a 38-year old female patient. She complained was found to have a right kidney tumour in a routine physical examination. Enhanced CT showed an early-stage tumour of about 4.3*3.7 cm on the lower pole of the right kidney. The male patient underwent open radical nephrectomy and the female patient underwent laparoscopic radical nephrectomy and extensive retroperitoneal lymph node dissection. The two patients underwent genetic testing and were diagnosed as having hereditary leiomyomatosis with renal cell carcinoma. Results The postoperative pathology in both patients revealed type 2 papillary renal cell carcinoma but with different prognosis. The male patient suffered multiple metastasis 10 months post-operation. The metastatic tumour of the abdominal wall was resected to confirm recurrence and hereditary leiomyomatosis renal cell carcinoma was diagnosed by the genetic test. While the female patient had a specific family history and uterine leiomyomas, the genetic test helped us to identify hereditary leiomyomatosis renal cell carcinoma pre-operation. Because of the early diagnosis and timely treatment, the female patient was considered to have a good prognosis. Conclusion Hereditary leiomyomatosis renal cell carcinoma is a rare hereditary disease resulting from FH gene mutation. There are currently no effective treatments.Our cases demonstrate that hereditary leiomyomatosis renal cell carcinoma is a very aggressive disease. Early screening and surveillance are recommended for patients with a family history or who are at risk of hereditary leiomyomatosis renal cell carcinoma. Surgical and palliative therapy still play an important role in clinical treatment.

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Childhood renal cell carcinoma

Paediatrica Indonesiana ◽

10.14238/pi46.2.2006.93-6 ◽

2016 ◽

Vol 46 (2) ◽

pp. 93

Author(s):

Nouval Shahab ◽

Arry Rodjani ◽

Rainy Umbas

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Renal Tumors ◽

First Report ◽

The Third ◽

Knowl Edge ◽

First Case

Renal cell carcinoma (RCC) in children isseldom found. The incidence of thistumor in childhood is estimated to be 0.1-0.3% out of all neoplasms and 2-7% out ofall malignant renal tumors. The Third NationalCancer Survey reported an incidence of only four casesof RCC per year compared to 117 per year of Wilms’tumor.The incidence of RCC has not been reported inIndonesia. This is the first case of childhood RCCfound in our institution. To the best of our knowl-edge, this is the first report of childhood RCC in In-donesia.

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Synchronous chromophobe and papillary renal cell carcinoma. First report and review of the pathogenesis theories

Pathology International ◽

10.1111/j.1440-1827.2009.02350.x ◽

2009 ◽

Vol 59 (3) ◽

pp. 193-196 ◽

Cited By ~ 5

Author(s):

Stavros Ioannis Tyritzis ◽

Paraskevi Theodoros Alexandrou ◽

Vasileios Migdalis ◽

George Koritsiadis ◽

Ioannis Anastasiou

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Papillary Renal Cell Carcinoma ◽

First Report

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Trisacryl Gelatin Microembolism and Metastases in the Lung after Renal Artery Embolization and Nephrectomy for Renal Cell Carcinoma

Case Reports in Urology ◽

10.1155/2015/916268 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3

Author(s):

Andres Borja Alvarez ◽

Jack P. Leventhal ◽

Cherise Cortese ◽

Barbara L. McComb ◽

David D. Thiel ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Renal Artery ◽

Cell Carcinoma ◽

Renal Cell ◽

Lower Lobe ◽

Embolic Agent ◽

Artery Embolization ◽

Gelatin Microspheres ◽

First Report ◽

Renal Artery Embolization

This is the first report, to our knowledge, of widespread, histologically confirmed trisacryl gelatin pulmonary microembolism after renal artery embolization (RAE). In addition, this is the first report of lung involvement by both metastatic renal cell carcinoma (RCC) and an embolic agent used for RAE. The patient was a 63-year-old woman who recently presented with both dyspnea on exertion and productive cough. Her past medical history included clear cell RCC, which was treated with preoperative trisacryl gelatin microsphere RAE and right nephrectomy 9 years earlier. Computed tomography of the chest showed multiple lung nodules, a mass-like density in the left lower lobe, and mediastinal and hilar lymphadenopathy. Wedge resections of the lung showed multiple foci of metastatic RCC and extensive involvement of the muscular pulmonary arteries by trisacryl gelatin microspheres.

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Renal pseudomass: be aware of splenorenal fusion

BMJ Case Reports ◽

10.1136/bcr-2018-226652 ◽

2018 ◽

pp. bcr-2018-226652

Author(s):

Hamed Jafari ◽

Pooya Iranpour ◽

Sara Haseli

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Female Patient ◽

Renal Cell ◽

Renal Mass ◽

Correct Diagnosis ◽

Splenic Tissue ◽

Imaging Features ◽

Elderly Female ◽

Splenorenal Fusion

Splenosis is the heterotopic implantation of splenic tissue that usually occurs in a previous major abdominal trauma or splenectomy setting. However, splenorenal fusion is an uncommon entity, categorised as a developmental anomaly. There have been several confirmed cases in the literature. Despite some helpful imaging features, it can be easily misdiagnosed as a neoplastic renal mass, resulting in unnecessary nephrectomy. Here we presented a case of splenorenal fusion in an elderly female patient, which was initially misdiagnosed as renal cell carcinoma in sonography. More specific imaging modalities and biopsy are helpful in suggesting the correct diagnosis.

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Comprehensive Analysis of BAP1 Somatic Mutation in Clear Cell Renal Cell Carcinoma to Explore Potential Mechanisms in Silico

Journal of Cancer ◽

10.7150/jca.27281 ◽

2018 ◽

Vol 9 (22) ◽

pp. 4108-4116 ◽

Cited By ~ 5

Author(s):

Shengming Jin ◽

Junlong Wu ◽

Yao Zhu ◽

Weijie Gu ◽

Fangning Wan ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Somatic Mutation ◽

In Silico ◽

Renal Cell ◽

Clear Cell ◽

Comprehensive Analysis ◽

Cell Renal Cell Carcinoma

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First Report of Renal Cell Carcinoma Metastasizing to the Clivus in a Pediatric Patient

World Neurosurgery ◽

10.1016/j.wneu.2017.09.068 ◽

2017 ◽

Vol 108 ◽

pp. 997.e5-997.e7

Author(s):

John R. Ouma ◽

Lebohang C. Modikeng ◽

Reena Mohanlal

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Pediatric Patient ◽

Renal Cell ◽

First Report

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Metastatic Renal Cell Carcinoma Change Vascularity

Case Reports in Urology ◽

10.1155/2012/654617 ◽

2012 ◽

Vol 2012 ◽

pp. 1-3

Author(s):

Takeshi Azuma ◽

Yukihide Matayoshi ◽

Yohsuke Sato ◽

Yujiro Sato ◽

Yasushi Nagase

Keyword(s):

Computed Tomography ◽

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Metastatic Renal Cell Carcinoma ◽

Renal Cell ◽

Clinical Use ◽

Targeted Agents ◽

First Report ◽

Molecular Targeted Agents

Several molecular targeted agents have been approved for clinical use for metastatic renal cell carcinoma (mRCC). A case of a 32-year-old woman with mRCC is presented. These tumors could change vascularity by administration of molecular agents. We could select a drug timely based on findings of computed tomography. To our knowledge, this is the first report that tumor’s character change induced by molecular targeted agents can be detected and the efficacy of molecular targeted agents can be predicted.

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